牙本质发育不全-身材矮小-听力丧失-智力障碍综合征
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
定义 英文原文（暂无中文）
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.
别名
牙本质发育不全-身材矮小-耳聋-智力障碍综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 11
极常见 99–80%11
- 面部形状异常 HP:0001999
- 锥形骨骺 HP:0010579
- 牙齿萌出延迟 HP:0000684
- 牙本质发育不全 HP:0000703
- 轻度智力障碍 HP:0001256
- 骨质疏松 HP:0000939
- 扁平椎 HP:0000926
- 鼻梁突出 HP:0000426
- 感音神经性听力受损 HP:0000407
- 人中短 HP:0000322
- 身材矮小 HP:0004322
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）